142 related articles for article (PubMed ID: 21031081)
1. Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
Foley C; Roberts K; Tchrakian N; Morgan T; Fryer A; Robertson SP; Tubridy N
Mol Syndromol; 2010 Sep; 1(3):121-126. PubMed ID: 21031081
[TBL] [Abstract][Full Text] [Related]
2. Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
Santos HH; Garcia PP; Pereira L; Leão LL; Aguiar RA; Lana AM; Carvalho MR; Aguiar MJ
Am J Med Genet A; 2010 Mar; 152A(3):726-31. PubMed ID: 20186808
[TBL] [Abstract][Full Text] [Related]
3. Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.
Luo X; Yang Z; Zeng J; Chen J; Chen N; Jiang X; Wei Q; Yi P; Xu J
Mol Genet Genomic Med; 2023 May; 11(5):e2145. PubMed ID: 36734119
[TBL] [Abstract][Full Text] [Related]
4. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R
J Med Genet; 2015 Jun; 52(6):405-12. PubMed ID: 25755106
[TBL] [Abstract][Full Text] [Related]
5. A family of Melnick-Needles syndrome: a case report.
Oh CH; Lee CH; Kim SY; Lee SY; Jun HH; Lee S
BMC Pediatr; 2020 Aug; 20(1):391. PubMed ID: 32814550
[TBL] [Abstract][Full Text] [Related]
6. A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
Spencer C; Lombaard H; Wise A; Krause A; Robertson SP
Am J Med Genet A; 2018 Apr; 176(4):980-984. PubMed ID: 29575627
[TBL] [Abstract][Full Text] [Related]
7. A new case of Melnick-Needles syndrome with skeletal manifestations: A case report.
Zargarbashi R; Pirasteh MN; Nami Damirchi A; Shahbazi P
Int J Surg Case Rep; 2023 Sep; 110():108658. PubMed ID: 37591191
[TBL] [Abstract][Full Text] [Related]
8. Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S; Moutton S; Coupry I; Sole G; Deforges J; Guerineau E; Hubert C; Deves S; Pilliod J; Rooryck C; Abel C; Le Breton F; Collardeau-Frachon S; Cordier MP; Delezoide AL; Goldenberg A; Loget P; Melki J; Odent S; Patrier S; Verloes A; Viot G; Blesson S; Bessières B; Lacombe D; Arveiler B; Goizet C; Fergelot P
Clin Genet; 2016 Mar; 89(3):371-7. PubMed ID: 26404489
[TBL] [Abstract][Full Text] [Related]
9. Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
Zenker M; Nährlich L; Sticht H; Reis A; Horn D
Am J Med Genet A; 2006 May; 140(10):1069-73. PubMed ID: 16596676
[TBL] [Abstract][Full Text] [Related]
10. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
Hidalgo-Bravo A; Pompa-Mera EN; Kofman-Alfaro S; Gonzalez-Bonilla CR; Zenteno JC
Am J Med Genet A; 2005 Jul; 136(2):190-3. PubMed ID: 15940695
[TBL] [Abstract][Full Text] [Related]
11. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP; Twigg SR; Sutherland-Smith AJ; Biancalana V; Gorlin RJ; Horn D; Kenwrick SJ; Kim CA; Morava E; Newbury-Ecob R; Orstavik KH; Quarrell OW; Schwartz CE; Shears DJ; Suri M; Kendrick-Jones J; Wilkie AO;
Nat Genet; 2003 Apr; 33(4):487-91. PubMed ID: 12612583
[TBL] [Abstract][Full Text] [Related]
12. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A; Haan E; Thompson EM; Goizet C; Thauvin-Robinet C; Tai A; Kennedy D; Smith G; Khong TY; Solé G; Guerineau E; Coupry I; Huet F; Robertson S; Faivre L
Eur J Med Genet; 2011; 54(1):25-8. PubMed ID: 20888935
[TBL] [Abstract][Full Text] [Related]
13. Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
Roland-Billecart T; Schlund M; Lauwers L; Nicot R; Ferri J
J Craniofac Surg; 2021 Nov-Dec 01; 32(8):2823-2826. PubMed ID: 34183625
[TBL] [Abstract][Full Text] [Related]
14. Melnick-Needles syndrome associated with growth hormone deficiency: a case report.
Akın L; Adal E; Akın MA; Kurtoğlu S
J Clin Res Pediatr Endocrinol; 2009; 1(5):248-51. PubMed ID: 21274303
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.
Kristiansen M; Knudsen GP; Søyland A; Westvik J; Ørstavik KH
Am J Med Genet; 2002 Mar; 108(2):120-7. PubMed ID: 11857561
[TBL] [Abstract][Full Text] [Related]
16. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
Mariño-Enríquez A; Lapunzina P; Robertson SP; Rodríguez JI
Am J Med Genet A; 2007 May; 143A(10):1120-5. PubMed ID: 17431908
[TBL] [Abstract][Full Text] [Related]
17. Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Albano LMJ; Bertola DR; Barba MF; Valente M; Robertson SP; Kim CA
Clin Dysmorphol; 2007 Jan; 16(1):27-33. PubMed ID: 17159511
[TBL] [Abstract][Full Text] [Related]
18. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S; Fergelot P; Naudion S; Cordier MP; Solé G; Guerineau E; Hubert C; Rooryck C; Vuillaume ML; Houcinat N; Deforges J; Bouron J; Devès S; Le Merrer M; David A; Geneviève D; Giuliano F; Journel H; Megarbane A; Faivre L; Chassaing N; Francannet C; Sarrazin E; Stattin EL; Vigneron J; Leclair D; Abadie C; Sarda P; Baumann C; Delrue MA; Arveiler B; Lacombe D; Goizet C; Coupry I
J Hum Genet; 2016 Aug; 61(8):693-9. PubMed ID: 27193221
[TBL] [Abstract][Full Text] [Related]
19. Melnick-Needles syndrome and GH-deficiency: a possible new association feature.
Femiano P; Castaldo V; Iossa C; Pascarella F
Minerva Pediatr; 2005 Dec; 57(6):419-22. PubMed ID: 16402013
[TBL] [Abstract][Full Text] [Related]
20. Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
van Kogelenberg M; Clark AR; Jenkins Z; Morgan T; Anandan A; Sawyer GM; Edwards M; Dudding T; Homfray T; Castle B; Tolmie J; Stewart F; Kivuva E; Pilz DT; Gabbett M; Sutherland-Smith AJ; Robertson SP
J Mol Med (Berl); 2015 Jul; 93(7):773-82. PubMed ID: 25686753
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
